GJB1 gap junction protein beta 1
Gene ID: 2705, updated on 27-Aug-2024Gene type: protein coding
Also known as: CMTX; CX32; CMTX1
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- Go to complete Gene record for GJB1
- Go to Variation Viewer for GJB1 variants
Summary
This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
Associated conditions
Genomic context
- Location:
- Xq13.1
- Sequence:
- Chromosome: X; NC_000023.11 (71215239..71225516)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GJB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GJB1 homepage - Leiden Muscular Dystrophy pages
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- The Connexin-deafness homepage
- Variation ViewerRelated Variants
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